ClinVar Miner

Submissions for variant NM_198904.4(GABRG2):c.1035del (p.Phe345fs)

dbSNP: rs1581453822
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000808359 SCV000948466 pathogenic Epilepsy, childhood absence 2; Febrile seizures, familial, 8 2018-10-04 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with GABRG2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the GABRG2 gene (p.Phe345Leufs*47). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 123 amino acids of the GABRG2 protein. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the GABRG2 protein. Other variant(s) that disrupt this region (p.Gln390*) have been determined to be pathogenic (PMID: 11748509, 27762395, 26005849, 23720301, 19261880). This suggests that variants that disrupt this region of the protein are likely to be causative of disease.

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